BFM 89.9

HIGHLIGHTS 
Podcast  >  Bigger Picture  >  Health & Living  >  Spinal Muscular Atrophy: From Carrier Screening To Life After Diagnosis

Spinal Muscular Atrophy: From Carrier Screening To Life After Diagnosis

Dr Sangita Dharshini Terumalay, Consultant Paediatric Neurologist | Yap Sook Yee, Parent and SMA Advocate

21-Aug-24 16:00

Spinal Muscular Atrophy: From Carrier Screening To Life After Diagnosis

For a family of a child with spinal muscular atrophy (SMA), life could be divided into moments of Before and After. Before refers to the period when the parents were expecting their child and before he/she came to be diagnosed with this genetic condition. After, of course, heralds how life changed following the diagnosis. In both periods, families have very little knowledge, information and guidance related to SMA, whether in terms of prevention through genetic screening, or navigating the journey of lifelong support and interventions. In conjunction with August being SMA Awareness Month, we speak to Dr Sangita Dharshini Terumalay, Consultant Paediatric Neurologist and Yap Sook Yee, Parent and SMA Advocate, on the realities of screening, diagnosis and preparing for the journey ahead. 


Image credit: ap Sook Yee & Edmund Lim

Produced by: Tee Shiao Eek

Presented by: Tee Shiao Eek


This and more than 60,000 other podcasts in your hand. Download the all new BFM mobile app.

Categories:  wellnessmanaging diseasemedical advances

Tags:  orphan drugthe bigger picturehealth and livingspinal muscular atrophyrare diseasedisabilitygenetic diseasegenetic testing





Play / Pause

Listen now : The 6AM Stretch: Thought-provoking discussions on ideas, people and events shaping our...

Today’s Shows



6:00 AM

The 6AM Stretch

Thought-provoking discussions on ideas, people and events shaping our lives.

7:00 AM

World Market Watch

David Dietze, Chief Investment Strategist, Dietze Wealth Management Group tells us where international markets are heading.

7:15 AM

Morning Brief

We recap global and local headlines from today's papers and portals.

7:30 AM

Morning Brief

Barnabas Gan, Group Chief Economist and Head of Market Research at RHB Bank, discusses the impact on financial markets and global growth in light of the Middle East tensions.

7:45 AM

Morning Brief

Syed Saddiq, the Muar MP, discusses the failed 10-year PM term limit and the proposed separation of the Attorney-General and Public Prosecutor roles.

8:00 AM

The Breakfast Grille

Dr James Dorsey of S. Rajaratnam School of International Studies weighs in on Iran’s stability after the reported killing of its Supreme Leader.

8:30 AM

Morning Brief

Dr Malcolm Davis, Security Analyst, Australian Strategic Policy Institute talks about the military aspects of the attack on Iran.

8:45 AM

Morning Brief

(REPEAT) We dive into the local and international news that matters to you.

9:00 AM

Opening Bell

(REPEAT) David Dietze, Chief Investment Strategist, Dietze Wealth Management Group tells us where international markets are heading.

9:15 AM

Opening Bell

(REPEAT) Barnabas Gan, Group Chief Economist and Head of Market Research at RHB Bank, discusses the impact on financial markets and global growth in light of the Middle East tensions.

9:35 AM

The Property Show

Kirit Kumar, Managing Director of Approved Group International (AGI), provides insights into the aftermath of fires, floods, defects, and disputes.

10:05 AM

Open For Business

How does a 21-year-old legacy brand defend its turf against Mixue’s scale economics? Coolblog CEO Sueli Lew discusses the Private Equity strategy to scale, why they are moving from secondary towns to Pavilion KL, and what it takes to take this legacy brand to the next level.

11:00 AM

FTA

12:00 PM

Enterprise Explores

Cedric Chehab, Chief Economist at BMI

1:00 PM

Breakfast Grille (REPEAT)

Dr James Dorsey of S. Rajaratnam School of International Studies weighs in on Iran’s stability after the reported killing of its Supreme Leader.

2:05 PM

Discovery Hour

An eclectic selection of BBC shows, curated with variety in mind.

3:05 PM

Earth Matters

4:05 PM

Health & Living

5:00 PM

Top 5 at 5

A countdown of the 5 biggest stories of the day, to catch you up on all you need to know!

6:00 PM

Big Issue

7:00 PM

Stories of KL

Healing on the Hills

8:00 PM

Cruise Control

Daniel Fernandez, Managing Editor, dsf.my